Bétrémieux P, Blin-Jezequel E, Lefrançois C, Le Marec B
J Genet Hum. 1985 Jan;33(1):21-30.
Description of a family who presents two cases of neonatal myotonic dystrophy (Steinert's disease) in two successive generations. The authors summarize the different genetic theories generally advanced; they sum up the antenatal means of diagnostic that is based on the knowledge of linkage of the loci for myotonic dystrophy and Lutheran blood group.
描述了一个家族,该家族连续两代出现两例新生儿型强直性肌营养不良症(斯坦纳特病)。作者总结了普遍提出的不同遗传理论;他们概括了基于强直性肌营养不良症基因座与路德血型连锁知识的产前诊断方法。